Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

C.V. Logan; G. Szabadkai; J.A. Sharpe; D.A. Parry; S. Torelli; M. Childs; M. Kriek; R. Phadke; C.A. Johnson; N.Y. Roberts; D.T. Bonthron; K.A. Pysden; T. Whyte; I. Munteanu; A.R. Foley; G. Wheway; K. Szymanska; S. Natarajan; Z.A. Abdelhamed; J.E. Morgan; H. Roper; G.W. Santen; E.H. Niks; W.L. van der Pol; D. Lindhout; A. Raffaello; D. de Stefani; JT den Dunnen; Y. Sun; I. Ginjaar; C.A. Sewry; M. Hurles; R. Rizzuto; x. UK 10K Consortium; X et al; F. Muntoni; E Sheridan

doi:10.1038/ng.2851

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Translated title of the contribution: Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

C.V. Logan
, G. Szabadkai
, J.A. Sharpe
, D.A. Parry
, S. Torelli
, M. Childs
, M. Kriek
, R. Phadke
, C.A. Johnson
, N.Y. Roberts
, D.T. Bonthron
, K.A. Pysden
, T. Whyte
, I. Munteanu
, A.R. Foley
, G. Wheway
, K. Szymanska
, S. Natarajan
, Z.A. Abdelhamed
, J.E. Morgan

H. Roper, G.W. Santen, E.H. Niks, W.L. van der Pol, D. Lindhout, A. Raffaello, D. de Stefani, JT den Dunnen, Y. Sun, I. Ginjaar, C.A. Sewry, M. Hurles, R. Rizzuto, x. UK 10K Consortium, X et al, F. Muntoni, E Sheridan

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Original language	Undefined/Unknown
Pages (from-to)	188-193
Number of pages	6
Journal	Nature Genetics
Volume	46
Issue number	2
DOIs	https://doi.org/10.1038/ng.2851
Publication status	Published - 2014

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

10.1038/ng.2851

http://www.ncbi.nlm.nih.gov/pubmed/24336167

Cite this

Logan, C. V., Szabadkai, G., Sharpe, J. A., Parry, D. A., Torelli, S., Childs, M., Kriek, M., Phadke, R., Johnson, C. A., Roberts, N. Y., Bonthron, D. T., Pysden, K. A., Whyte, T., Munteanu, I., Foley, A. R., Wheway, G., Szymanska, K., Natarajan, S., Abdelhamed, Z. A., ... Sheridan, E. (2014). Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nature Genetics, 46(2), 188-193. https://doi.org/10.1038/ng.2851

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title = "Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "C.V. Logan and G. Szabadkai and J.A. Sharpe and D.A. Parry and S. Torelli and M. Childs and M. Kriek and R. Phadke and C.A. Johnson and N.Y. Roberts and D.T. Bonthron and K.A. Pysden and T. Whyte and I. Munteanu and A.R. Foley and G. Wheway and K. Szymanska and S. Natarajan and Z.A. Abdelhamed and J.E. Morgan and H. Roper and G.W. Santen and E.H. Niks and \{van der Pol\}, W.L. and D. Lindhout and A. Raffaello and \{de Stefani\}, D. and \{den Dunnen\}, JT and Y. Sun and I. Ginjaar and C.A. Sewry and M. Hurles and R. Rizzuto and \{UK 10K Consortium\}, x. and \{et al\}, X and F. Muntoni and E Sheridan",

year = "2014",

doi = "10.1038/ng.2851",

language = "Undefined/Unknown",

volume = "46",

pages = "188--193",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

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}

Logan, CV, Szabadkai, G, Sharpe, JA, Parry, DA, Torelli, S, Childs, M, Kriek, M, Phadke, R, Johnson, CA, Roberts, NY, Bonthron, DT, Pysden, KA, Whyte, T, Munteanu, I, Foley, AR, Wheway, G, Szymanska, K, Natarajan, S, Abdelhamed, ZA, Morgan, JE, Roper, H, Santen, GW, Niks, EH, van der Pol, WL, Lindhout, D, Raffaello, A, de Stefani, D, den Dunnen, JT, Sun, Y, Ginjaar, I, Sewry, CA, Hurles, M, Rizzuto, R, UK 10K Consortium, X, et al, X, Muntoni, F & Sheridan, E 2014, 'Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling', Nature Genetics, vol. 46, no. 2, pp. 188-193. https://doi.org/10.1038/ng.2851

TY - JOUR

T1 - Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

AU - Logan, C.V.

AU - Szabadkai, G.

AU - Sharpe, J.A.

AU - Parry, D.A.

AU - Torelli, S.

AU - Childs, M.

AU - Kriek, M.

AU - Phadke, R.

AU - Johnson, C.A.

AU - Roberts, N.Y.

AU - Bonthron, D.T.

AU - Pysden, K.A.

AU - Whyte, T.

AU - Munteanu, I.

AU - Foley, A.R.

AU - Wheway, G.

AU - Szymanska, K.

AU - Natarajan, S.

AU - Abdelhamed, Z.A.

AU - Morgan, J.E.

AU - Roper, H.

AU - Santen, G.W.

AU - Niks, E.H.

AU - van der Pol, W.L.

AU - Lindhout, D.

AU - Raffaello, A.

AU - de Stefani, D.

AU - den Dunnen, JT

AU - Sun, Y.

AU - Ginjaar, I.

AU - Sewry, C.A.

AU - Hurles, M.

AU - Rizzuto, R.

AU - UK 10K Consortium, x.

AU - et al, X

AU - Muntoni, F.

AU - Sheridan, E

PY - 2014

Y1 - 2014

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

U2 - 10.1038/ng.2851

DO - 10.1038/ng.2851

M3 - Article

C2 - 24336167

SN - 1061-4036

VL - 46

SP - 188

EP - 193

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -